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Medicina Clinica Feb 2021
Topics: Dextrocardia; Humans; Poland Syndrome
PubMed: 32178897
DOI: 10.1016/j.medcli.2019.11.014 -
Neurologia I Neurochirurgia Polska 2023Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are clinical manifestations of tauopathies. They are commonly associated with rapid motor and... (Review)
Review
INTRODUCTION
Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are clinical manifestations of tauopathies. They are commonly associated with rapid motor and cognitive deterioration. Sleep disturbances are less frequently described as a feature of these diseases, though they are reported among 50-75% of PSP patients.
STATE OF THE ART
Apart from various clinical manifestations, sleep abnormalities in PSP and CBS seem to be a factor enhancing pathogenesis as well its consequences. Multiple researchers have looked into the issue of whether the complexity of sleep disturbances in PSP and CBS could be linked to atrophic changes within structures crucial for daytime regulation, coexisting pathologies, or other less explored mechanisms.
CLINICAL SIGNIFICANCE
Among sleep abnormalities in PSP and CBS have been reported excessive daytime sleepiness, night-time insomnia, reduction of total sleep time, more pronounced sleep fragmentation, restless leg syndrome (RLS), agrypnia excitata, periodic limb movements, sleep respiratory disturbances, rapid-eye movement behaviour disorder, and others.
FUTURE DIRECTIONS
The aim of this review was to elaborate upon the significance of sleep abnormalities in tauopathic parkinsonian syndromes, and to determine their usefulness in differential diagnosis with synucleinopathic parkinsonian syndromes. Extended analyses of sleep disturbances may provide a different perspective on atypical parkinsonisms.
Topics: Humans; Supranuclear Palsy, Progressive; Corticobasal Degeneration; Syndrome; Parkinsonian Disorders; Sleep Wake Disorders
PubMed: 36928793
DOI: 10.5603/PJNNS.a2023.0019 -
Medicina (Kaunas, Lithuania) Jul 2022: Mental health disorders are often the consequence of hormonal disorders such as those accompanying polycystic ovary syndrome (PCOS), where changes in appearance and...
: Mental health disorders are often the consequence of hormonal disorders such as those accompanying polycystic ovary syndrome (PCOS), where changes in appearance and having to deal with a number of other problems occur due to this illness. The objective of this study was to determine the prevalence and severity of anxiety and depression symptoms, the level of ego-resiliency, and the ways that women with PCOS cope with stress compared to healthy women in order to determine the influence of socio-demographic characteristics in relation to levels of anxiety and depression with ego-resiliency and stress-coping methods. : The study was conducted in Poland in 2021 and included 230 women with PCOS and 199 healthy controls aged 20-40 years old. The hospital anxiety and depression scale (HADs), ego-resiliency scale, as well as the MINI-COPE inventory were used. : The women with PCOS had higher levels of anxiety and depression and poorer ego-resiliency in comparison to the healthy women. The women with PCOS used passive stress-coping strategies significantly more commonly than the healthy women. Living in rural areas, having a lower level of education and being childless increased anxiety levels. Similarly, being over 30, living in a rural area, having a lower level of education, being childless, and being obese increased depression levels in the women with PCOS. A low level of ego-resiliency and passive stress-coping strategies are predictors of high levels of anxiety and depression in women with PCOS. : Women with PCOS should be checked for anxiety and depression. They should also be checked to see whether they have the resources to cope with chronic stress in order to optimize therapeutic interventions.
Topics: Adaptation, Psychological; Adult; Anxiety; Anxiety Disorders; Depression; Female; Humans; Polycystic Ovary Syndrome; Young Adult
PubMed: 35888661
DOI: 10.3390/medicina58070942 -
Radiology Case Reports Apr 2020Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence...
Poland syndrome refers to a chest wall disorder in which there is a deficiency of the pectoral musculature. Möbius syndrome is a rare disorder in which there is absence or hypoplasia of the facial or abducens nerve, either unilaterally or bilaterally. Described here is a case in a newborn male in which both conditions manifest simultaneously as Poland-Möbius syndrome. The imaging findings here serve as a useful guide for the radiologist and ordering providers by reinforcing the need for dedicated cranial nerve imaging in patients who have deficiencies in anterior chest wall musculature.
PubMed: 32055264
DOI: 10.1016/j.radcr.2020.01.002 -
Pediatric Radiology Sep 2023We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis...
We describe prenatal diagnosis of Poland-Möbius syndrome using a combination of ultrasound and MRI. Poland syndrome was diagnosed based on absence of the pectoralis muscles associated with dextroposition of the fetal heart and elevation of the left diaphragm. Associated brain anomalies that led to the diagnosis of Poland-Möbius syndrome, included ventriculomegaly, hypoplastic cerebellum, tectal beaking, and a peculiar flattening of the posterior aspect of the pons and medulla oblongata, which has been reported by postnatal diffusion tensor imaging studies as a reliable neuroimaging marker for Möbius syndrome. Since abnormalities of cranial nerves VI and VII may be difficult to detect prenatally, careful attention to the appearance of the brain stem as illustrated in the current report may aid in the prenatal diagnosis of Möbius syndrome.
Topics: Female; Humans; Pregnancy; Diffusion Tensor Imaging; Mobius Syndrome; Poland Syndrome; Prenatal Diagnosis
PubMed: 37423914
DOI: 10.1007/s00247-023-05712-8 -
Viruses Oct 2022European brown hare syndrome (EBHS) is one of the main causes of mortality in brown hares () and mountain hares () in Europe. Since the mid-1990s, this highly lethal and...
European brown hare syndrome (EBHS) is one of the main causes of mortality in brown hares () and mountain hares () in Europe. Since the mid-1990s, this highly lethal and contagious plague has been widespread in many European countries, contributing to a drastic decline in the number of free-living and farmed hares. A second lagovirus, able to infect some species of hares is rabbit haemorrhagic disease virus 2 (RHDV2; GI.2) recognised in 2010, a new viral emergence of RHDV (GI.1) which is known to be responsible for haemorrhagic disease in rabbits-RHD. The aim of this study was to evaluate the current EBHS epidemiological situation on the basis of the presence of antibodies to European brown hare syndrome virus (EBHSV) and anti-RHDV2 antibodies in sera collected from free-ranging hares in Central and Southeastern Poland in 2020-2021. Additionally, studies on the presence of EBHSV and RHDV2 antigens or their genetic material in the blood and internal organs taken from brown hares between 2014 - 2021 have been carried out. The results of the serological examination showed nearly 88% of tested blood samples were positive for EBHSV antibodies. No EBHSV was identified in the examined hares using virological and molecular tests. The positive results of EBHS serological studies confirmed the circulation and maintenance of EBHSV in free-living brown hares in Poland. However, no serological, virological or molecular evidence was obtained indicating that the brown hares tested had been in contact with RHDV2.
Topics: Animals; Rabbits; Hares; Poland; Caliciviridae Infections; Lagovirus; Hemorrhagic Disease Virus, Rabbit; Lagomorpha
PubMed: 36366520
DOI: 10.3390/v14112423 -
Cardiology Journal 2020
Topics: Acute Coronary Syndrome; Betacoronavirus; COVID-19; Coronavirus Infections; Humans; Myocardial Infarction; Pandemics; Pneumonia, Viral; Referral and Consultation; SARS-CoV-2
PubMed: 33165896
DOI: 10.5603/CJ.2020.0152 -
Animals : An Open Access Journal From... Dec 2020Short beak and dwarfism syndrome (SBDS), which was previously identified only in mule ducks, is now an emerging disease of Pekin ducks in China and Egypt. The disease is...
Short beak and dwarfism syndrome (SBDS), which was previously identified only in mule ducks, is now an emerging disease of Pekin ducks in China and Egypt. The disease is caused by the infection of ducks with a genetic variant of goose parvovirus-novel goose parvovirus (nGPV). In 2019, SBDS was observed for the first time in Poland in eight farms of Pekin ducks. Birds in the affected flock were found to show growth retardation and beak atrophy with tongue protrusions. Morbidity ranged between 15% and 40% (in one flock), while the mortality rate was 4-6%. Co-infection with duck circovirus, a known immunosuppressive agent, was observed in 85.7% of ducks. The complete coding regions of four isolates were sequenced and submitted to GenBank. The phylogenetic analysis revealed a close relationship of Polish viral sequences with the Chinese nGPV. Genomic sequence alignments showed 98.57-99.28% identity with the nGPV sequences obtained in China, and 96.42% identity with the classical GPV (cGPV; Derzsy's disease). The rate of amino acid mutations in comparison to cGPV and Chinese nGPV was higher in the Rep protein than in the Vp1 protein. To our knowledge, this is the first report of nGPV infection in Pekin ducks in Poland and Europe. It should be emphasized that monitoring and sequencing of waterfowl parvoviruses is important for tracking the viral genetic changes that enable adaptation to new species of waterbirds.
PubMed: 33333781
DOI: 10.3390/ani10122397 -
The Surgical Clinics of North America Oct 2022Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression.... (Review)
Review
Pectus excavatum, carinatum, and arcuatum are 3 developmental chest wall deformities that may evolve during childhood and cause cardiac and/or pulmonary compression. Evaluation may include nonsurgical subspecialty consultations and imaging studies. Treatment may be nonoperative or surgical. Long-term follow-up studies have identified rare complications of traditional open repair. Routine in utero ultrasonography has led to increasing identification of congenital lung anomalies, including congenital cystic adenomatoid malformations, pulmonary sequestrations, and bronchogenic cysts. Short-term follow-up studies have suggested that some lesions may regress spontaneously. Minimally invasive techniques, including thoracoscopy, may allow for early surgical resection with less morbidity than traditional open surgery.
Topics: Cystic Adenomatoid Malformation of Lung, Congenital; Funnel Chest; Humans; Lung; Surgeons; Thoracic Wall
PubMed: 36209753
DOI: 10.1016/j.suc.2022.07.017 -
Genes Dec 2022Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and...
Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) are rare genetic diseases with a number of common clinical features ranging from early-childhood obesity and retinal degeneration. ALMS and BBS belong to the ciliopathies, which are known to have the expression products of genes, encoding them as cilia-localized proteins in multiple target organs. The aim of this study was to perform transcriptomic and proteomic analysis on cellular models of ALMS and BBS syndromes to identify common and distinct pathological mechanisms present in both syndromes. For this purpose, epithelial cells were isolated from the urine of patients and healthy subjects, which were then cultured and reprogrammed into induced pluripotent stem (iPS) cells. The pathways of genes associated with the metabolism of lipids and glycosaminoglycan and the transport of small molecules were found to be concomitantly downregulated in both diseases, while transcripts related to signal transduction, the immune system, cell cycle control and DNA replication and repair were upregulated. Furthermore, protein pathways associated with autophagy, apoptosis, cilium assembly and Gli1 protein were upregulated in both ciliopathies. These results provide new insights into the common and divergent pathogenic pathways between two similar genetic syndromes, particularly in relation to primary cilium function and abnormalities in cell differentiation.
Topics: Child; Humans; Bardet-Biedl Syndrome; Transcriptome; Proteomics; Pediatric Obesity; Alstrom Syndrome; Proteins; Ciliopathies
PubMed: 36553637
DOI: 10.3390/genes13122370